Kirkland local Berea Schaffer is VP of Connected Experiences at Workday, a wife, mother, and relentless advocate and fundraiser for Rett Syndrome and those affected by it; including her seven-year-old daughter, Bryer. After a year of tests and evaluations, Bryer was diagnosed at age two following a concerning developmental plateau.
Characterized as a “rare” disease, about 350,000 people worldwide have Rett Syndrome, primarily girls. It’s a neurological disorder caused by a spontaneously occurring gene mutation, and makes it difficult for the brain to communicate with the rest of the body. The majority are nonverbal, unable to walk, and have seizure disorders. Hand wringing and breathing irregularities are also typical of Rett. Babies are generally born healthy, and symptoms begin to develop around 12-18 months.
As a rare disease, getting enough funding directed to research for potential therapies and cures is a special challenge. Schaffer mentions the US government recently approved access to federal funding for Rett, meaning now researchers can apply for federal grants to further study the syndrome. The Schaffer family holds a fundraiser annually to benefit the Rett Syndrome Research Trust, which provides research grants to universities, doctors, researchers, and companies.
In just the past year, two gene therapy clinical trials started for Rett syndrome, with many additional promising approaches including gene editing in active research. The community is optimistic for a cure because early discoveries showed symptoms could be reversed, rather than simply arrested, in mice.
Schaffer says her family has been overwhelmed with community support for their fundraiser, and they will continue raising awareness and money to fund research for a cure. You can find more information about Rett, and make a contribution at reverserett.org.
